The clinical manifestations and cytogenetic details of a de novo partial deletion of the short arm of chromosome 8, del(8)(p23.1), and inversion of long arm chromosome 7, inv(7)(q11.2q32), are described. The case was a 22 month old girl referred to our cytogenetic laboratory due to many abnormal features such as congenital microcephaly, hypotonia, developmental delay, strabismus, highly arched palate, hypernatremia, hypermagnesemia and deafness. Chromosome analysis revealed 46,XX, inv(7)(q11.2q32),del(8)(p23.1) de novo karyotype. The concurrence of these two abnormalities has not been reported previously.
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